Canonical Allele Identifier: CA8925724
Gene: DSG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402801
ClinVar RCV Id: RCV001520702 RCV001662403 RCV001662404
dbSNP Id: rs1426310
ExAC: 18:28898294 A / G
gnomAD v2: 18-28898294-A-G
gnomAD v3: 18-31318331-A-G
gnomAD v4: 18-31318331-A-G
MyVariant Identifiers: chr18:g.28898294A>G (hg19) chr18:g.31318331A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31318331A>G , CM000680.2:g.31318331A>G GRCh38
NC_000018.9:g.28898294A>G , CM000680.1:g.28898294A>G GRCh37
NC_000018.8:g.27152292A>G NCBI36
NG_011803.2:g.5243A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000257192.5:c.31A>G MANE Select ENSP00000257192.4:p.Met11Val
ENST00000257192.4:c.31A>G ENSP00000257192.4:p.Met11Val
NM_001942.3:c.31A>G NP_001933.2:p.Met11Val
NM_001942.4:c.31A>G MANE Select NP_001933.2:p.Met11Val
Search 100 bp 5'
Search 100 bp 3'